About The Medical Condition Galactosemias, Classic
Find the definition of the medical term Galactosemias, Classic. Galactosemias, Classic defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Galactosemias, Classic
| Galactosemias, Classic Medical Condition |
|---|
What's The Definition Of The Medical Condition Galactosemias, Classic?
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Religious Belief ‐ A set of beliefs concerning the nature, cause, and purpose of…
- Cardiac Ruptures ‐ Laceration or tearing of the walls of the heart, of the interatrial…
- Tyrosine Hydroxylase ‐ An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin,…
- Achondroplasia ‐ An autosomal dominant disorder that is the most frequent form…
- Ticks ‐ Blood-sucking acarid parasites of the order Ixodida comprising…
- Benign Hepatomas ‐ A benign epithelial tumor of…
- Deficiency, Vitamin B6 ‐ A nutritional condition produced by a deficiency of VITAMIN B…
- Hyposensitization Therapies ‐ Immunosuppression by the administration of increasing doses of…
- Psychological Models ‐ Theoretical representations that simulate psychological processes…
- Anhydrous Tolmetin Sodium ‐ A non-steroidal anti-inflammatory agent (ANTI-INFLAMMATORY AGENTS,…